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urea cycle disorder

Disease Summary
Associated Targets (15)
Tbio

11

Tclin

2

Tchem

2


GARD Rare
Mondo Description A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
Disease Ontology Description An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
Mondo Term and Equivalent IDs
MONDO:0004739:  urea cycle disorder
COHD:434311: 
GARD:0007837: 
ICD9:270.6: 
MESH:D056806: 
NCIT:C84785: 
Orphanet:79167: 
SCTID:36444000: 
UMLS:C0154246: